|
Myocardial Infarction
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
This study provides evidence that a common variant in CCDC93, encoding a protein involved in recycling of the LDLR, is associated with lower LDL-c levels, lower risk of MI and cardiovascular mortality.
|
31630160 |
2020 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an inherited disease of lipoprotein metabolism caused by a defect in the LDL receptor (LDLR) leading to severe hypercholesterolemia, and associated with an increased risk of coronary heart disease and myocardial infarction.
|
31061510 |
2019 |
|
Myocardial Infarction
|
0.200 |
Biomarker
|
disease |
BEFREE |
Familial Hypercholesterolemia Among Young Adults With Myocardial Infarction.
|
31097165 |
2019 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study enrolled PMI patients (n = 225) and detected the mutations in their FH-associated genes (LDLR, APOB, PCSK9, LDLRAP1) by Sanger sequencing.
|
30971288 |
2019 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In good agreement with previous studies in patients with familial hypercholesterolaemia, our study in the Japanese general population showed that rare variants in LDLR and PCSK9 were associated with the onset age of MI by altering LDL-cholesterol levels.
|
29802317 |
2018 |
|
Myocardial Infarction
|
0.200 |
Biomarker
|
disease |
BEFREE |
As for prospective cohort studies, many inconsistent reports on the association of LDL-C and ASCVD were disregarded when drafting the Statement, reports with and without genetic factors related to LDL receptor function should be analyzed separately, and the term ASCVD in the Statement is used inappropriately because myocardial infarction and cerebral infarction differ in their association with LDL-C. As for RCTs, clinical reports on statins published before and after the implementation of new regulations affecting clinical trials (2004/2005) should not both be included in meta-analyses because the evaluated efficacy of statins changed markedly, and the irreversible adverse effects of statins need to be evaluated more rigorously now that their mechanisms have been elucidated.
|
29353277 |
2018 |
|
Myocardial Infarction
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
By applying this approach to missense alleles identified through cohort-level exome sequencing in the low-density lipoprotein receptor (LDLR) we are able to distinguish rare alleles that predispose to familial hypercholesterolemia and myocardial infarction from alleles without obvious impact on LDLR levels or functions.
|
28470529 |
2017 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Importantly, considering experimental data refined the risk of rare LDLR allele carriers from 4.5- to 25.3-fold for high LDL-C, and from 2.1- to 20-fold for early-onset myocardial infarction.
|
25647241 |
2015 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At low-density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference).
|
25487149 |
2015 |
|
Myocardial Infarction
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Bioinformatic analysis of this differential gene-set for associated pathways revealed 1) increasing disease severity in AMI patients is associated with a decreased expression of genes involved in the developmental epithelial-to-mesenchymal transition pathway, and 2) modulation of cholesterol transport genes that include ABCA1, CETP, APOA1, and LDLR is associated with clinical outcome.
|
24801707 |
2014 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
High frequency LDLR mutations (related to familial high cholesterol) predict myocardial infarction in approximately50% of individuals.
|
21472782 |
2011 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Apo E isoform, and 2 common low-density lipoprotein receptor variants (rs1433099 and rs6511720) influence MI risk in this multiethnic sample.
|
20031563 |
2009 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Their early work on the LDL receptor explained a genetic cause of heart attacks and led to new ways of thinking about cholesterol metabolism.
|
19299327 |
2009 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SNP-level associations included three SNPs with MI (one LDLR, two LIPC) and two SNPs with stroke (one CETP, one LDLR).
|
18622260 |
2008 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.
|
12646194 |
2003 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive.
|
11050659 |
2000 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Except for certain polymorphisms in lipid genes (i.e., apolipoprotein E [apo E]) or rare genetic variations (i.e., LDL receptor), which have a causal effect on both the intermediate (LDL-cholesterol level in plasma) and the clinical phenotypes (CAD/MI), the role of most gene polymorphisms is controversial or unknown.
|
11258599 |
2000 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with LDLR defects had a significantly higher risk of myocardial infarction, coronary artery bypass graft, positive coronary angiography, atherosclerotic plaques in the carotid arteries and CAD (p<0.01) than patients with FDB.
|
9360938 |
1996 |
|
Myocardial Infarction
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the available techniques for determining the number of the functional LDL receptor molecules are not sufficiently accurate.
|
2904255 |
1989 |
|
Myocardial Infarction
|
0.200 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia produces a premature inherited form of myocardial infarction, whereas, atherosclerosis with myocardial infarction, seen in advanced age, relates more closely to environmental factors such as smoking, diet, etc.
|
2812210 |
1989 |
|
Myocardial Infarction
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|